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Open Access Research article

A canine model of Cohen syndrome: Trapped Neutrophil Syndrome

Jeremy R Shearman12 and Alan N Wilton13*

Author Affiliations

1 School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia

2 National Center for Genetic Engineering and Biotechnology, 113 Phahonyothin Rd., Klong 1, Klong Luang, Pathumthani 12120, Thailand

3 Clive and Vera Ramaciotti Centre for Gene Function Analysis, University of New South Wales, Sydney, NSW 2052, Australia

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BMC Genomics 2011, 12:258  doi:10.1186/1471-2164-12-258

Published: 23 May 2011

Additional files

Additional file 1:

Includes six supplementary figures and six supplementary tables: Figure S1: Multipoint LOD scores for linkage to TNS gene by microsatellites C13.0390, C13.0423, C13.0449, C13.0478 in VPS13B region on CFA3. Figure S2: Genotypes at four microsatellite loci near VPS13B in eight TNS affected border collies identified by Dog ID number. Figure S3: Comparison of sequence electropherograms for an affected, carrier and control Border collie showing four bp deletion in exon 19 of VPS13B for bases 2894 to 2897 (transcript variant 1). Figure S4: Sequence comparison of VPS13B exons 27 and 27b in human to dog, horse, cow, rat and mouse showing high conservation for non-rodents. Figure S5: Sequence comparison between mouse and rat of VPS13B sequence homologous to exon 28 in human showing 271 bp deletion in rat. Table S1: Microsatellite primers used for linkage analysis of candidate genes. Table S2: Microsatellite allele sizes in 72 Border collies for the four microsatellites in the VPS13B region. Table S3: Non-disease haplotypes for the four microsatellites in the VPS13B region in 72 Border collies. Table S4: Single nucleotide variations identified from sequencing genomic DNA of VPS13B showing their genomic location, predicted effect on the protein produced for transcript variant 1, dbSNP ID where available and whether the SNP is in LD with TNS. Table S5: TNS Test results showing allele proportions by country after correcting for ascertainment bias. Table S6: Primers used to amplify exons from genomic DNA and from cDNA variants, and sequence PCR products

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